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ARG1 arginase 1 [ Homo sapiens (human) ]

Gene ID: 383, updated on 4-Jan-2025

Summary

Official Symbol
ARG1provided by HGNC
Official Full Name
arginase 1provided by HGNC
Primary source
HGNC:HGNC:663
See related
Ensembl:ENSG00000118520 MIM:608313; AllianceGenome:HGNC:663
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Expression
Biased expression in liver (RPKM 237.4), bone marrow (RPKM 81.9) and 1 other tissue See more
Orthologs
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Genomic context

See ARG1 in Genome Data Viewer
Location:
6q23.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (131573226..131584329)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (132767703..132778804)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (131894366..131905469)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378005 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:131677980-131679179 Neighboring gene ribosomal protein L21 pseudogene 67 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131825416-131826081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:131852503-131853004 Neighboring gene NANOG hESC enhancer GRCh37_chr6:131893832-131894333 Neighboring gene mediator complex subunit 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17546 Neighboring gene RNA, U4 small nuclear 18, pseudogene Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:132021641-132022226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:132022227-132022812 Neighboring gene olfactory receptor family 2 subfamily A member 4

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

EBI GWAS Catalog

Description
A genome-wide association study on obesity and obesity-related traits.
EBI GWAS Catalog
New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables arginase activity  
enables manganese ion binding  
enables protein binding PubMed 
Component Evidence Code Pubs
located_in azurophil granule lumen  
is_active_in cytoplasm  
is_active_in cytosol  
located_in cytosol  
located_in extracellular region  
located_in extracellular space PubMed 
located_in nucleus PubMed 
located_in specific granule lumen  

General protein information

Preferred Names
arginase-1
Names
arginase, liver
liver-type arginase
type I arginase
NP_000036.2
NP_001231367.1
NP_001355949.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007086.2 RefSeqGene

    Range
    5002..16105
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000045.4NP_000036.2  arginase-1 isoform 2

    See identical proteins and their annotated locations for NP_000036.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    BC020653, BG542163
    Consensus CDS
    CCDS5145.1
    UniProtKB/Swiss-Prot
    A6NEA0, P05089, Q5JWT5, Q5JWT6, Q8TE72, Q9BS50
    UniProtKB/TrEMBL
    A0A5F9ZGN6
    Related
    ENSP00000357066.3, ENST00000368087.8
    Conserved Domains (1) summary
    cd11587
    Location:9303
    Arginase-like; Arginase types I and II and arginase-like family
  2. NM_001244438.2NP_001231367.1  arginase-1 isoform 1

    See identical proteins and their annotated locations for NP_001231367.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as erythroid variant) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AY074488, BC020653
    Consensus CDS
    CCDS59038.1
    UniProtKB/TrEMBL
    A0A5F9ZGN6
    Related
    ENSP00000349446.2, ENST00000356962.2
    Conserved Domains (1) summary
    cd11587
    Location:9311
    Arginase-like; Arginase types I and II and arginase-like family
  3. NM_001369020.1NP_001355949.1  arginase-1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL121575
    Consensus CDS
    CCDS94002.1
    UniProtKB/TrEMBL
    A0A5F9ZH78
    Related
    ENSP00000500160.1, ENST00000673427.1
    Conserved Domains (1) summary
    cl17011
    Location:9218
    Arginase_HDAC; Arginase-like and histone-like hydrolases

RNA

  1. NR_160934.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL121575

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    131573226..131584329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    132767703..132778804
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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